0000000000290147
AUTHOR
Liotta A.
Neonatal presentation of Prader Willi sindrome. Personal records.
Resistance to thyroid hormones. Study of an affected kindred diagnosed at neonatal age
Resistance to thyroid hormones (RTH) is a rare condition of reduced activity of thyroid hormones on peripheral tissues and/or reduced suppression of TSH secretion by thyroid hormones. The disease is characterised by high serum levels of T3, T4, fT3 and fT4, and by unexpectedly normal or high TSH levels. The origin of the resistance has been recognised in a thyroid hormone receptor deficit, whose gene (TRβ) has been mapped on chromosome 3p24.3 and several mutations have been identified. The clinical presentation may vary among a large spectrum from hypo-, to eu-, to hyperthyroidism in different patients, even in the same family. The diagnosis of RTH at birth and in the first months of life i…
Pulmonary hypertension caused by a severe scoliosis
Background. Pulmonary hypertension in childhood is uncommon. It can be idiopathic or secondary to other pathologies (cardiovascular, skeletric,...). Case description. We report on a 9 year old girl suffering from pulmonary hypertension due to severe dorso-lumbar scoliosis. Conclusions. We discuss the etiopathogenetic relationship between scoliosis and pulmonary hypertension, with particular reference to the role of the treatment with Milwaukee's corset in the evolution of the disease.
LEPTIN LEVELS IN ASYMPTOMATIC COELIAC ADOLESCENTS: ONE YEAR OF FOLLOW-UP IN GLUTEN-FREE DIET
Spontaneous and after stimulation FSH and LH patterns in thalassemic male adolescents
Background. In the last years thalassemic patients gained a good improvement in prognosis and life style. However, short stature and hypogonadism are still frequent endocrine problems in this population. Methods. In a group of eleven thalassemic males (14-18 years old), the spontaneous nocturnal endocrine patterns of LH and FSH and plasma gonadotropins in response to GnRH were studied. The profiles were analyzed using a computer program (PULSAR) to determine the secretion pattern (number and amplitude of peaks) and the area under the curve above the secretion baseline (AUC). The endocrine status was compared with liver fibrosis, iron overload and transfusional regimen. Results. A regular an…
Prevalenza tiroidite autoimmune in una popolazione di bambini e adolescenti diabetici vs diabetici celiaci
Evaluation of IGF1 and IGFBP3 during diet therapy in patients affected by food allergy with complex nutritional risk
The seric levels of IGF1 and IGFBP3 and their molar ratio, together with clinical and auxological parameters, have been evaluated in 16 patients (8 males and 8 females), of average age of 11.6±8.66 months, who were suffering from complex food allergy and were subjected to a balanced diet whill excluded the "offending" food. The results, compared "with those of a control population of same age and body surface, have showln a significative reduction of IGF1 and an increase of the molar ratio IGFBP3/IGF1. These observations suggest that, in spite of no significative variation of growth in height and weight, an exclusion diet for a food allergy can reduce the biological activity of some hormona…